Genomic medicine in the Middle East
Tóm tắt
We discuss the current state of genomic medicine in Arab countries of the Middle East, a region with outsized contribution to Mendelian genetics due to inbreeding yet has poor representation in global variome datasets. We focus on genomic testing, clinical genetics, and genetic counseling services along with associated training and research programs. Finally, we highlight opportunities for improvement in genomic medicine services in this region.
Tài liệu tham khảo
Nurk S, Koren S, Rhie A, Rautiainen M, Bzikadze AV, Mikheenko A, et al. The complete sequence of a human genome. BioRxiv. https://doi.org/10.1101/2021.05.26.445798.
Green ED, Gunter C, Biesecker LG, Francesco VD, Easter CL, Feingold EA, et al. Strategic vision for improving human health at The Forefront of Genomics. Nature. 2020;586(7831):683–92. https://doi.org/10.1038/s41586-020-2817-4.
Shamia A, Shaheen R, Sabbagh N, Almoisheer A, Halees A, Alkuraya FS. Revisiting disease genes based on whole-exome sequencing in consanguineous populations. Hum Genet. 2015;134(9):1029–34. https://doi.org/10.1007/s00439-015-1580-3.
Saadallah AA, Rashed MS. Newborn screening: experiences in the Middle East and North Africa. J Inherit Metab Dis. 2007;30(4):482–9. https://doi.org/10.1007/s10545-007-0660-5.
Arrayed S. AL. Campaign to control genetic blood diseases in Bahrain. Community Genet. 2005;8(1):52–5. https://doi.org/10.1159/000083340.
American Board of Medical Genetic and Genomics. http://www.abmgg.org/pages/resources_certspecial.shtml. Accessed 01 Oct 2021.
Abacan M, Alsubaie L, Barlow-Stewart K, Caanen B, Cordier C, Courtney E, et al. The global state of the genetic counseling profession. Eur J Hum Genet. 2019;2(2):183–97. https://doi.org/10.1038/s41431-018-0252-x.
Lane R. Fowzan Alkuraya: leading light in Saudi Human Genome Program. Lancet. 2017;390(10093):446. https://doi.org/10.1016/S0140-6736(17)31908-6.
Fakhro KA, Robay A, Rodriguez-Flores JL, Mezey JG, Al-Shakaki AA, Chidiac O, et al. Point of care exome sequencing reveals allelic and phenotypic heterogeneity underlying Mendelian disease in Qatar. Hum Mol Genet. 2019;28(23):3970–81. https://doi.org/10.1093/hmg/ddz134.
Alkuraya FS. Curt Stern Award Address: a more perfect clinical genome-how consanguineous populations contribute to the medical annotation of the human genome. Am J Hum Genet. 2021;108(3):395–9. https://doi.org/10.1016/j.ajhg.2020.12.009.
